ZDHHC4

Zinc Finger DHHC-Type Palmitoyltransferase 4

Gene Information Card

Symbol ZDHHC4
Full Name Zinc Finger DHHC-Type Palmitoyltransferase 4
Gene Type Protein coding
Chromosomal Location 7p22.1
NCBI Gene ID 25923 ncbi.nlm.nih.gov/gene/25923
Ensembl ID ENSG00000106484
UniProt ID Q9NPG8
OMIM ID 618864
HGNC ID 20742
Aliases DHHC4, ZNF374

Description

ZDHHC4 encodes a member of the DHHC family of zinc finger proteins that function as palmitoyltransferases, catalyzing the addition of palmitate to cysteine residues of target proteins. This post-translational modification regulates protein localization, stability, and function. ZDHHC4 is involved in various cellular processes including signal transduction, vesicle trafficking, and neuronal development.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various) Altered palmitoylation of oncogenic or tumor suppressor proteins COSMIC; somatic mutations and copy number alterations reported
Neurodevelopmental disorders Impaired palmitoylation of synaptic proteins OMIM; rare variants associated with intellectual disability

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Testis 10.2 Medium
Lung 8.1 Low
Liver 6.3 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 15.0 High expression
HeLa 9.5 Moderate expression
SH-SY5Y 11.2 Neuronal cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.500G>A (p.Arg167His) Missense <0.01% Unknown functional impact
c.742C>T (p.Arg248Trp) Missense <0.01% Reported in ClinVar as uncertain significance
Mutation functional classification

Loss of Function (LOF)

Not well characterized; predicted loss of palmitoyltransferase activity for some missense variants.

Gain of Function (GOF)

Not reported.

Dominant Negative (DN)

Not reported.

Gene Ontology (GO)

• Palmitoyltransferase activity • Zinc ion binding
• Protein palmitoylation • Membrane
• Endoplasmic reticulum

Pathways

• Protein palmitoylation
• Ras signaling (indirect)

Protein Summary

ZDHHC4 is a 364-amino acid integral membrane protein localized to the endoplasmic reticulum and Golgi apparatus. It contains a conserved DHHC (Asp-His-His-Cys) cysteine-rich domain essential for its palmitoyltransferase activity. The protein is ubiquitously expressed with highest levels in brain and testis. Substrates include neuronal proteins such as PSD-95 and GAP-43, implicating ZDHHC4 in synaptic plasticity and neuronal development.

Related Products

Product name Cat.No. Species Gene ID
ZDHHC4 Knockout HEK293 Cell Line EDJ-KQ3100 Human 55146 Details Get a Quote
ZDHHC4 Knockout A-549 Cell Line EDJ-KQ24429 Human 55146 Details Get a Quote
ZDHHC4 Knockout HCT 116 Cell Line EDJ-KQ24430 Human 55146 Details Get a Quote
ZDHHC4 Knockout HeLa Cell Line EDJ-KQ24431 Human 55146 Details Get a Quote
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